Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 1 229730260 229730260 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr1:229730260G>A c.1554C>T c.(1552-1554)ttC>ttT p.F518F BLCA 1 229730649 229730649 + Missense_Mutation SNP C C G TCGA-E7-A5KF-01A-11D-A289-08 TCGA-E7-A5KF-10A-01D-A289-08 g.chr1:229730649C>G c.1165G>C c.(1165-1167)Gat>Cat p.D389H BLCA 1 229730829 229730829 + Missense_Mutation SNP C C T TCGA-ZF-A9RG-01A-21D-A42E-08 TCGA-ZF-A9RG-10A-01D-A42H-08 g.chr1:229730829C>T c.985G>A c.(985-987)Gat>Aat p.D329N BLCA 1 229738101 229738101 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr1:229738101C>T c.813G>A c.(811-813)ttG>ttA p.L271L BLCA 1 229738564 229738564 + Missense_Mutation SNP T T C TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 g.chr1:229738564T>C c.350A>G c.(349-351)gAa>gGa p.E117G BRCA 1 229738112 229738112 + Nonsense_Mutation SNP C C A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr1:229738112C>A c.802G>T c.(802-804)Gag>Tag p.E268* BRCA 1 229738235 229738235 + Missense_Mutation SNP C C G TCGA-AC-A5XS-01A-11D-A29N-09 TCGA-AC-A5XS-11A-13D-A29N-09 g.chr1:229738235C>G c.679G>C c.(679-681)Gac>Cac p.D227H BRCA 1 229738611 229738611 + Silent SNP G G A TCGA-D8-A1JN-01A-11D-A13L-09 TCGA-D8-A1JN-10A-01D-A13O-09 g.chr1:229738611G>A c.303C>T c.(301-303)gtC>gtT p.V101V BRCA 1 229738621 229738621 + Missense_Mutation SNP G G C TCGA-B6-A0IJ-01A-11W-A050-09 TCGA-B6-A0IJ-10A-01W-A055-09 g.chr1:229738621G>C c.293C>G c.(292-294)cCt>cGt p.P98R BRCA 1 229750159 229750159 + Missense_Mutation SNP T T G TCGA-A8-A085-01A-11W-A019-09 TCGA-A8-A085-10A-01W-A021-09 g.chr1:229750159T>G c.71A>C c.(70-72)gAc>gCc p.D24A BRCA 1 229750174 229750174 + Missense_Mutation SNP C C T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr1:229750174C>T c.56G>A c.(55-57)cGc>cAc p.R19H CESC 1 229730226 229730226 + Missense_Mutation SNP T T C TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 g.chr1:229730226T>C c.1588A>G c.(1588-1590)Atg>Gtg p.M530V CESC 1 229730463 229730463 + Missense_Mutation SNP G G C TCGA-EX-A69L-01A-11D-A32I-09 TCGA-EX-A69L-10A-01D-A32I-09 g.chr1:229730463G>C c.1351C>G c.(1351-1353)Cgg>Ggg p.R451G COAD 1 229730598 229730598 + Missense_Mutation SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr1:229730598G>A c.1216C>T c.(1216-1218)Cgc>Tgc p.R406C COAD 1 229730672 229730672 + Missense_Mutation SNP T T C TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr1:229730672T>C c.1142A>G c.(1141-1143)cAa>cGa p.Q381R COAD 1 229738236 229738236 + Silent SNP G G A TCGA-D5-6923-01A-11D-1924-10 TCGA-D5-6923-10A-01D-1924-10 g.chr1:229738236G>A c.678C>T c.(676-678)ccC>ccT p.P226P COADREAD 1 229730579 229730579 + Nonsense_Mutation SNP G G C TCGA-AG-A036-01A-12W-A096-10 TCGA-AG-A036-11A-11W-A096-10 g.chr1:229730579G>C c.1235C>G c.(1234-1236)tCa>tGa p.S412* COADREAD 1 229730598 229730598 + Missense_Mutation SNP G G A TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr1:229730598G>A c.1216C>T c.(1216-1218)Cgc>Tgc p.R406C COADREAD 1 229730672 229730672 + Missense_Mutation SNP T T C TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr1:229730672T>C c.1142A>G c.(1141-1143)cAa>cGa p.Q381R COADREAD 1 229738236 229738236 + Silent SNP G G A TCGA-D5-6923-01A-11D-1924-10 TCGA-D5-6923-10A-01D-1924-10 g.chr1:229738236G>A c.678C>T c.(676-678)ccC>ccT p.P226P DLBC 1 229730826 229730826 + Missense_Mutation SNP T T G TCGA-FA-A6HN-01A-11D-A31X-10 TCGA-FA-A6HN-10A-01D-A31X-10 g.chr1:229730826T>G c.988A>C c.(988-990)Aat>Cat p.N330H DLBC 1 229750089 229750089 + Splice_Site SNP T T C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr1:229750089T>C c.141A>G c.(139-141)acA>acG p.T47T ESCA 1 229730114 229730114 + Missense_Mutation SNP A A G TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 g.chr1:229730114A>G c.1700T>C c.(1699-1701)cTg>cCg p.L567P ESCA 1 229730322 229730322 + Missense_Mutation SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 g.chr1:229730322C>T c.1492G>A c.(1492-1494)Gcc>Acc p.A498T ESCA 1 229730759 229730759 + Missense_Mutation SNP G G A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 g.chr1:229730759G>A c.1055C>T c.(1054-1056)gCg>gTg p.A352V ESCA 1 229738643 229738643 + Nonsense_Mutation SNP C C A TCGA-L5-A4OR-01A-11D-A27G-09 TCGA-L5-A4OR-11A-11D-A27G-09 g.chr1:229738643C>A c.271G>T c.(271-273)Gaa>Taa p.E91* ESCA 1 229745865 229745865 + Missense_Mutation SNP T T C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 g.chr1:229745865T>C c.235A>G c.(235-237)Aat>Gat p.N79D GBMLGG 1 229738320 229738320 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:229738320G>A c.594C>T c.(592-594)gaC>gaT p.D198D GBMLGG 1 229738582 229738582 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:229738582C>T c.332G>A c.(331-333)aGt>aAt p.S111N GBMLGG 1 229745874 229745874 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:229745874G>A c.226C>T c.(226-228)Cga>Tga p.R76* HNSC 1 229730338 229730338 + Silent SNP C C T TCGA-CV-A6JM-01A-11D-A31L-08 TCGA-CV-A6JM-10A-01D-A31J-08 g.chr1:229730338C>T c.1476G>A c.(1474-1476)ttG>ttA p.L492L HNSC 1 229730404 229730404 + Silent SNP G G A TCGA-BA-A6DG-01A-21D-A30E-08 TCGA-BA-A6DG-10A-01D-A30H-08 g.chr1:229730404G>A c.1410C>T c.(1408-1410)ccC>ccT p.P470P HNSC 1 229730582 229730582 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr1:229730582C>A c.1232G>T c.(1231-1233)tGg>tTg p.W411L HNSC 1 229738001 229738001 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 g.chr1:229738001C>G c.913G>C c.(913-915)Gag>Cag p.E305Q HNSC 1 229738406 229738406 + Missense_Mutation SNP C C G TCGA-CV-A45W-01A-11D-A25D-08 TCGA-CV-A45W-10A-01D-A25E-08 g.chr1:229738406C>G c.508G>C c.(508-510)Gac>Cac p.D170H HNSC 1 229750160 229750160 + Missense_Mutation SNP C C G TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr1:229750160C>G c.70G>C c.(70-72)Gac>Cac p.D24H KIPAN 1 229730727 229730727 + Missense_Mutation SNP C C T TCGA-PJ-A5Z8-01A-11D-A28G-10 TCGA-PJ-A5Z8-10A-01D-A28G-10 g.chr1:229730727C>T c.1087G>A c.(1087-1089)Gac>Aac p.D363N KIPAN 1 229730773 229730773 + Missense_Mutation SNP G G C TCGA-CJ-4913-01A-01D-1429-08 TCGA-CJ-4913-11A-01D-1429-08 g.chr1:229730773G>C c.1041C>G c.(1039-1041)agC>agG p.S347R KIPAN 1 229738474 229738474 + Missense_Mutation SNP T T G TCGA-A3-3362-01A-02D-1386-10 TCGA-A3-3362-11A-01D-1251-10 g.chr1:229738474T>G c.440A>C c.(439-441)cAg>cCg p.Q147P KIPAN 1 229738593 229738593 + Silent SNP C C A TCGA-BP-4976-01A-01D-1462-08 TCGA-BP-4976-11A-01D-1462-08 g.chr1:229738593C>A c.321G>T c.(319-321)ctG>ctT p.L107L KIRC 1 229730773 229730773 + Missense_Mutation SNP G G C TCGA-CJ-4913-01A-01D-1429-08 TCGA-CJ-4913-11A-01D-1429-08 g.chr1:229730773G>C c.1041C>G c.(1039-1041)agC>agG p.S347R KIRC 1 229738474 229738474 + Missense_Mutation SNP T T G TCGA-A3-3362-01A-02D-1386-10 TCGA-A3-3362-11A-01D-1251-10 g.chr1:229738474T>G c.440A>C c.(439-441)cAg>cCg p.Q147P KIRC 1 229738593 229738593 + Silent SNP C C A TCGA-BP-4976-01A-01D-1462-08 TCGA-BP-4976-11A-01D-1462-08 g.chr1:229738593C>A c.321G>T c.(319-321)ctG>ctT p.L107L KIRP 1 229730727 229730727 + Missense_Mutation SNP C C T TCGA-PJ-A5Z8-01A-11D-A28G-10 TCGA-PJ-A5Z8-10A-01D-A28G-10 g.chr1:229730727C>T c.1087G>A c.(1087-1089)Gac>Aac p.D363N LGG 1 229738320 229738320 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:229738320G>A c.594C>T c.(592-594)gaC>gaT p.D198D LGG 1 229738582 229738582 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:229738582C>T c.332G>A c.(331-333)aGt>aAt p.S111N LGG 1 229745874 229745874 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:229745874G>A c.226C>T c.(226-228)Cga>Tga p.R76* LUAD 1 229730202 229730202 + Missense_Mutation SNP C C T TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr1:229730202C>T c.1612G>A c.(1612-1614)Gac>Aac p.D538N LUAD 1 229730303 229730303 + Missense_Mutation SNP T T G TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 g.chr1:229730303T>G c.1511A>C c.(1510-1512)aAa>aCa p.K504T LUAD 1 229730381 229730381 + Missense_Mutation SNP G G A TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr1:229730381G>A c.1433C>T c.(1432-1434)cCc>cTc p.P478L LUAD 1 229730411 229730411 + Missense_Mutation SNP C C G TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr1:229730411C>G c.1403G>C c.(1402-1404)cGt>cCt p.R468P LUAD 1 229730442 229730442 + Missense_Mutation SNP C C A TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr1:229730442C>A c.1372G>T c.(1372-1374)Ggg>Tgg p.G458W LUAD 1 229730651 229730651 + Missense_Mutation SNP C C A TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr1:229730651C>A c.1163G>T c.(1162-1164)tGg>tTg p.W388L LUAD 1 229738095 229738095 + Silent SNP A A T TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr1:229738095A>T c.819T>A c.(817-819)acT>acA p.T273T LUAD 1 229738212 229738212 + Silent SNP C C T TCGA-17-Z023-01A-01W-0746-08 TCGA-17-Z023-11A-01W-0746-08 g.chr1:229738212C>T c.702G>A c.(700-702)caG>caA p.Q234Q LUAD 1 229738322 229738322 + Missense_Mutation SNP C C G TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr1:229738322C>G c.592G>C c.(592-594)Gac>Cac p.D198H LUAD 1 229738448 229738448 + Nonsense_Mutation SNP G G A TCGA-05-4250-01A-01D-1105-08 TCGA-05-4250-10A-01D-1105-08 g.chr1:229738448G>A c.466C>T c.(466-468)Cga>Tga p.R156* LUAD 1 229750098 229750098 + Silent SNP G G A TCGA-91-6848-01A-11D-1945-08 TCGA-91-6848-11A-01D-1945-08 g.chr1:229750098G>A c.132C>T c.(130-132)gcC>gcT p.A44A LUAD 1 229750119 229750119 + Missense_Mutation SNP C C A TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr1:229750119C>A c.111G>T c.(109-111)caG>caT p.Q37H LUSC 1 229730377 229730377 + Silent SNP G G A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 g.chr1:229730377G>A c.1437C>T c.(1435-1437)aaC>aaT p.N479N LUSC 1 229730434 229730434 + Silent SNP C C T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 g.chr1:229730434C>T c.1380G>A c.(1378-1380)tcG>tcA p.S460S LUSC 1 229730793 229730793 + Missense_Mutation SNP G G A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 g.chr1:229730793G>A c.1021C>T c.(1021-1023)Cac>Tac p.H341Y LUSC 1 229738436 229738436 + Missense_Mutation SNP C C A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 g.chr1:229738436C>A c.478G>T c.(478-480)Gat>Tat p.D160Y OV 1 229738153 229738153 + Missense_Mutation SNP G G A TCGA-24-1604-01A-01W-0552-10 TCGA-24-1604-10A-01W-0552-10 g.chr1:229738153G>A c.761C>T c.(760-762)cCc>cTc p.P254L PAAD 1 229730353 229730353 + Silent SNP G G A TCGA-XD-AAUL-01A-21D-A397-08 TCGA-XD-AAUL-10A-01D-A39A-08 g.chr1:229730353G>A c.1461C>T c.(1459-1461)ggC>ggT p.G487G PAAD 1 229730385 229730385 + Frame_Shift_Del DEL A A - TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 g.chr1:229730385delA c.1429delT c.(1429-1431)tctfs p.S477fs PAAD 1 229738419 229738419 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:229738419G>A c.495C>T c.(493-495)gtC>gtT p.V165V PAAD 1 229750171 229750171 + Missense_Mutation SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 g.chr1:229750171C>T c.59G>A c.(58-60)cGg>cAg p.R20Q PRAD 1 229730363 229730363 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:229730363G>A c.1451C>T c.(1450-1452)gCg>gTg p.A484V PRAD 1 229730823 229730823 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:229730823C>T c.991G>A c.(991-993)Gca>Aca p.A331T PRAD 1 229738251 229738251 + Silent SNP G G A TCGA-HC-7817-01B-11D-A29Q-08 TCGA-HC-7817-10A-01D-A29Q-08 g.chr1:229738251G>A c.663C>T c.(661-663)aaC>aaT p.N221N PRAD 1 229738306 229738306 + Missense_Mutation SNP T T C TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 g.chr1:229738306T>C c.608A>G c.(607-609)aAg>aGg p.K203R READ 1 229730579 229730579 + Nonsense_Mutation SNP G G C TCGA-AG-A036-01A-12W-A096-10 TCGA-AG-A036-11A-11W-A096-10 g.chr1:229730579G>C c.1235C>G c.(1234-1236)tCa>tGa p.S412* SKCM 1 229730170 229730170 + Silent SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr1:229730170G>A c.1644C>T c.(1642-1644)gcC>gcT p.A548A SKCM 1 229730171 229730171 + Missense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr1:229730171G>A c.1643C>T c.(1642-1644)gCc>gTc p.A548V SKCM 1 229730347 229730347 + Silent SNP G G A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr1:229730347G>A c.1467C>T c.(1465-1467)gaC>gaT p.D489D SKCM 1 229730512 229730512 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr1:229730512G>A c.1302C>T c.(1300-1302)ttC>ttT p.F434F SKCM 1 229730571 229730571 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr1:229730571G>A c.1243C>T c.(1243-1245)Cgg>Tgg p.R415W SKCM 1 229738200 229738200 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:229738200G>A c.714C>T c.(712-714)gcC>gcT p.A238A SKCM 1 229738377 229738377 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chr1:229738377G>A c.537C>T c.(535-537)ctC>ctT p.L179L SKCM 1 229738452 229738452 + Missense_Mutation SNP C C G TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr1:229738452C>G c.462G>C c.(460-462)aaG>aaC p.K154N SKCM 1 229738560 229738560 + Missense_Mutation SNP A A C TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr1:229738560A>C c.354T>G c.(352-354)agT>agG p.S118R SKCM 1 229738629 229738629 + Silent SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:229738629G>A c.285C>T c.(283-285)ctC>ctT p.L95L SKCM 1 229750146 229750146 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr1:229750146G>A c.84C>T c.(82-84)ccC>ccT p.P28P

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 229730671 229730671 single base substitution T A downstream_gene_variant BLCA-CN 1 229730671 229730671 single base substitution T A missense_variant Q381H 1143A>T BLCA-CN 1 229738370 229738370 single base substitution C T downstream_gene_variant BLCA-CN 1 229738370 229738370 single base substitution C T missense_variant D182N 544G>A BOCA-FR 1 229749638 229749638 single base substitution A G downstream_gene_variant BOCA-FR 1 229749638 229749638 single base substitution A G intron_variant BRCA-EU 1 229724050 229724050 single base substitution C A downstream_gene_variant BRCA-EU 1 229724068 229724068 single base substitution T C downstream_gene_variant BRCA-EU 1 229724310 229724310 single base substitution C T downstream_gene_variant BRCA-EU 1 229724993 229724993 single base substitution C G downstream_gene_variant BRCA-EU 1 229727125 229727125 single base substitution G C downstream_gene_variant BRCA-EU 1 229727280 229727280 single base substitution C G downstream_gene_variant BRCA-EU 1 229727528 229727528 single base substitution A T downstream_gene_variant BRCA-EU 1 229727909 229727909 single base substitution C T downstream_gene_variant BRCA-EU 1 229727973 229727973 single base substitution C T downstream_gene_variant BRCA-EU 1 229728684 229728684 single base substitution G A downstream_gene_variant BRCA-EU 1 229729047 229729047 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 229729132 229729132 single base substitution T C 3_prime_UTR_variant BRCA-EU 1 229729325 229729325 single base substitution C A 3_prime_UTR_variant BRCA-EU 1 229729657 229729657 single base substitution T C 3_prime_UTR_variant BRCA-EU 1 229729786 229729786 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 229730253 229730253 single base substitution C G downstream_gene_variant BRCA-EU 1 229730253 229730253 single base substitution C G missense_variant D521H 1561G>C BRCA-EU 1 229731757 229731757 single base substitution C T downstream_gene_variant BRCA-EU 1 229731757 229731757 single base substitution C T intron_variant BRCA-EU 1 229731894 229731894 single base substitution G A downstream_gene_variant BRCA-EU 1 229731894 229731894 single base substitution G A intron_variant BRCA-EU 1 229732628 229732628 single base substitution C G downstream_gene_variant BRCA-EU 1 229732628 229732628 single base substitution C G intron_variant BRCA-EU 1 229734084 229734084 single base substitution T C downstream_gene_variant BRCA-EU 1 229734084 229734084 single base substitution T C intron_variant BRCA-EU 1 229734199 229734199 single base substitution C G downstream_gene_variant BRCA-EU 1 229734199 229734199 single base substitution C G intron_variant BRCA-EU 1 229734930 229734930 single base substitution C T downstream_gene_variant BRCA-EU 1 229734930 229734930 single base substitution C T intron_variant BRCA-EU 1 229736090 229736090 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 229736090 229736090 single base substitution G A intron_variant BRCA-EU 1 229736608 229736608 single base substitution T C 3_prime_UTR_variant BRCA-EU 1 229736608 229736608 single base substitution T C intron_variant BRCA-EU 1 229736662 229736662 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 1 229736662 229736662 deletion of <=200bp T - intron_variant BRCA-EU 1 229737223 229737223 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 229737223 229737223 single base substitution C G intron_variant BRCA-EU 1 229737426 229737426 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 229737426 229737426 single base substitution C G intron_variant BRCA-EU 1 229739423 229739423 single base substitution C G downstream_gene_variant BRCA-EU 1 229739423 229739423 single base substitution C G intron_variant BRCA-EU 1 229740832 229740832 single base substitution C G downstream_gene_variant BRCA-EU 1 229740832 229740832 single base substitution C G intron_variant BRCA-EU 1 229742513 229742513 single base substitution C G downstream_gene_variant BRCA-EU 1 229742513 229742513 single base substitution C G intron_variant BRCA-EU 1 229742803 229742803 single base substitution C T intron_variant BRCA-EU 1 229744302 229744302 single base substitution C G intron_variant BRCA-EU 1 229744472 229744472 single base substitution G C intron_variant BRCA-EU 1 229745328 229745328 single base substitution A G downstream_gene_variant BRCA-EU 1 229745328 229745328 single base substitution A G intron_variant BRCA-EU 1 229745398 229745398 single base substitution C T downstream_gene_variant BRCA-EU 1 229745398 229745398 single base substitution C T intron_variant BRCA-EU 1 229745951 229745951 single base substitution G A downstream_gene_variant BRCA-EU 1 229745951 229745951 single base substitution G A exon_variant BRCA-EU 1 229745951 229745951 single base substitution G A missense_variant S50L 149C>T BRCA-EU 1 229749158 229749158 insertion of <=200bp - A downstream_gene_variant BRCA-EU 1 229749158 229749158 insertion of <=200bp - A intron_variant BRCA-EU 1 229749527 229749527 single base substitution T C downstream_gene_variant BRCA-EU 1 229749527 229749527 single base substitution T C intron_variant BRCA-EU 1 229751168 229751168 deletion of <=200bp T - intron_variant BRCA-EU 1 229751168 229751168 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 229751412 229751412 single base substitution C G intron_variant BRCA-EU 1 229751412 229751412 single base substitution C G upstream_gene_variant BRCA-EU 1 229752104 229752104 single base substitution T C intron_variant BRCA-EU 1 229752104 229752104 single base substitution T C upstream_gene_variant BRCA-EU 1 229752137 229752137 single base substitution G C intron_variant BRCA-EU 1 229752137 229752137 single base substitution G C upstream_gene_variant BRCA-EU 1 229753239 229753239 single base substitution G A intron_variant BRCA-EU 1 229753239 229753239 single base substitution G A upstream_gene_variant BRCA-EU 1 229753560 229753560 single base substitution C A intron_variant BRCA-EU 1 229753560 229753560 single base substitution C A upstream_gene_variant BRCA-EU 1 229753767 229753767 single base substitution T C intron_variant BRCA-EU 1 229753767 229753767 single base substitution T C upstream_gene_variant BRCA-EU 1 229754082 229754082 single base substitution C G intron_variant BRCA-EU 1 229754082 229754082 single base substitution C G upstream_gene_variant BRCA-EU 1 229754326 229754326 single base substitution C A intron_variant BRCA-EU 1 229754326 229754326 single base substitution C A upstream_gene_variant BRCA-EU 1 229754812 229754814 deletion of <=200bp ATT - intron_variant BRCA-EU 1 229754812 229754814 deletion of <=200bp ATT - upstream_gene_variant BRCA-EU 1 229754826 229754826 deletion of <=200bp T - intron_variant BRCA-EU 1 229754826 229754826 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 229755732 229755732 single base substitution C T intron_variant BRCA-EU 1 229756283 229756294 deletion of <=200bp CCCTAAACAGAT - intron_variant BRCA-EU 1 229757453 229757453 single base substitution G A intron_variant BRCA-EU 1 229758704 229758704 single base substitution C A intron_variant BRCA-EU 1 229758811 229758811 single base substitution G C intron_variant BRCA-EU 1 229759057 229759057 single base substitution C T intron_variant BRCA-EU 1 229759167 229759167 single base substitution C G intron_variant BRCA-EU 1 229759342 229759342 single base substitution C A intron_variant BRCA-EU 1 229759360 229759360 single base substitution C A intron_variant BRCA-EU 1 229759675 229759675 single base substitution G T intron_variant BRCA-EU 1 229759817 229759817 single base substitution C G intron_variant BRCA-EU 1 229760209 229760209 single base substitution C T intron_variant BRCA-EU 1 229760274 229760274 single base substitution T A intron_variant BRCA-EU 1 229763832 229763832 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 229764136 229764136 single base substitution T A upstream_gene_variant BRCA-FR 1 229727280 229727280 single base substitution C G downstream_gene_variant BRCA-FR 1 229728684 229728684 single base substitution G A downstream_gene_variant BRCA-FR 1 229737426 229737426 single base substitution C G 3_prime_UTR_variant BRCA-FR 1 229737426 229737426 single base substitution C G intron_variant BRCA-FR 1 229739423 229739423 single base substitution C G downstream_gene_variant BRCA-FR 1 229739423 229739423 single base substitution C G intron_variant BRCA-FR 1 229742513 229742513 single base substitution C G downstream_gene_variant BRCA-FR 1 229742513 229742513 single base substitution C G intron_variant BRCA-FR 1 229744302 229744302 single base substitution C G intron_variant BRCA-FR 1 229745796 229745796 single base substitution T C downstream_gene_variant BRCA-FR 1 229745796 229745796 single base substitution T C intron_variant BRCA-FR 1 229757479 229757479 single base substitution C G intron_variant BRCA-FR 1 229759675 229759675 single base substitution G T intron_variant BRCA-UK 1 229723895 229723895 single base substitution C G downstream_gene_variant BRCA-UK 1 229729047 229729047 single base substitution C T 3_prime_UTR_variant BRCA-UK 1 229737993 229737993 single base substitution G C downstream_gene_variant BRCA-UK 1 229737993 229737993 single base substitution G C missense_variant H307Q 921C>G BRCA-US 1 229738112 229738112 single base substitution C A downstream_gene_variant BRCA-US 1 229738112 229738112 single base substitution C A stop_gained E268* 802G>T BRCA-US 1 229738235 229738235 single base substitution C G downstream_gene_variant BRCA-US 1 229738235 229738235 single base substitution C G missense_variant D227H 679G>C BRCA-US 1 229738611 229738611 single base substitution G A downstream_gene_variant BRCA-US 1 229738611 229738611 single base substitution G A synonymous_variant V101V 303C>T BRCA-US 1 229738621 229738621 single base substitution G C downstream_gene_variant BRCA-US 1 229738621 229738621 single base substitution G C missense_variant P98R 293C>G BRCA-US 1 229750159 229750159 single base substitution T G exon_variant BRCA-US 1 229750159 229750159 single base substitution T G missense_variant D24A 71A>C BRCA-US 1 229750174 229750174 single base substitution C T exon_variant BRCA-US 1 229750174 229750174 single base substitution C T missense_variant R19H 56G>A BTCA-JP 1 229730135 229730135 single base substitution G A downstream_gene_variant BTCA-JP 1 229730135 229730135 single base substitution G A missense_variant T560I 1679C>T BTCA-JP 1 229745891 229745891 single base substitution T C downstream_gene_variant BTCA-JP 1 229745891 229745891 single base substitution T C exon_variant BTCA-JP 1 229745891 229745891 single base substitution T C missense_variant Y70C 209A>G CESC-US 1 229730226 229730226 single base substitution T C downstream_gene_variant CESC-US 1 229730226 229730226 single base substitution T C missense_variant M530V 1588A>G CESC-US 1 229730463 229730463 single base substitution G C downstream_gene_variant CESC-US 1 229730463 229730463 single base substitution G C missense_variant R451G 1351C>G CLLE-ES 1 229733479 229733479 single base substitution T C downstream_gene_variant CLLE-ES 1 229733479 229733479 single base substitution T C intron_variant CLLE-ES 1 229738620 229738620 single base substitution A G downstream_gene_variant CLLE-ES 1 229738620 229738620 single base substitution A G synonymous_variant P98P 294T>C CLLE-ES 1 229742210 229742210 single base substitution T A downstream_gene_variant CLLE-ES 1 229742210 229742210 single base substitution T A intron_variant COAD-US 1 229730598 229730598 single base substitution G A downstream_gene_variant COAD-US 1 229730598 229730598 single base substitution G A missense_variant R406C 1216C>T COAD-US 1 229730799 229730799 single base substitution G A downstream_gene_variant COAD-US 1 229730799 229730799 single base substitution G A missense_variant R339W 1015C>T COAD-US 1 229730816 229730816 single base substitution G A downstream_gene_variant COAD-US 1 229730816 229730816 single base substitution G A missense_variant T333M 998C>T COCA-CN 1 229730601 229730601 single base substitution C T downstream_gene_variant COCA-CN 1 229730601 229730601 single base substitution C T missense_variant D405N 1213G>A COCA-CN 1 229744805 229744805 single base substitution G A intron_variant ESAD-UK 1 229724927 229724927 single base substitution G T downstream_gene_variant ESAD-UK 1 229727473 229727473 single base substitution G A downstream_gene_variant ESAD-UK 1 229729035 229729035 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 229731116 229731116 single base substitution G A downstream_gene_variant ESAD-UK 1 229731116 229731116 single base substitution G A intron_variant ESAD-UK 1 229731231 229731231 single base substitution G A downstream_gene_variant ESAD-UK 1 229731231 229731231 single base substitution G A intron_variant ESAD-UK 1 229733387 229733387 single base substitution C T downstream_gene_variant ESAD-UK 1 229733387 229733387 single base substitution C T intron_variant ESAD-UK 1 229733665 229733665 single base substitution G A downstream_gene_variant ESAD-UK 1 229733665 229733665 single base substitution G A intron_variant ESAD-UK 1 229736193 229736193 single base substitution G C 3_prime_UTR_variant ESAD-UK 1 229736193 229736193 single base substitution G C intron_variant ESAD-UK 1 229740823 229740823 single base substitution C T downstream_gene_variant ESAD-UK 1 229740823 229740823 single base substitution C T intron_variant ESAD-UK 1 229742558 229742558 single base substitution A G downstream_gene_variant ESAD-UK 1 229742558 229742558 single base substitution A G intron_variant ESAD-UK 1 229742888 229742888 single base substitution C T intron_variant ESAD-UK 1 229745150 229745150 single base substitution T C downstream_gene_variant ESAD-UK 1 229745150 229745150 single base substitution T C intron_variant ESAD-UK 1 229745235 229745235 single base substitution C T downstream_gene_variant ESAD-UK 1 229745235 229745235 single base substitution C T intron_variant ESAD-UK 1 229748603 229748603 single base substitution C G downstream_gene_variant ESAD-UK 1 229748603 229748603 single base substitution C G intron_variant ESAD-UK 1 229749526 229749526 single base substitution A T downstream_gene_variant ESAD-UK 1 229749526 229749526 single base substitution A T intron_variant ESAD-UK 1 229750501 229750501 single base substitution C T intron_variant ESAD-UK 1 229750501 229750501 single base substitution C T upstream_gene_variant ESAD-UK 1 229752068 229752068 single base substitution C A intron_variant ESAD-UK 1 229752068 229752068 single base substitution C A upstream_gene_variant ESAD-UK 1 229755267 229755268 deletion of <=200bp AG - intron_variant ESAD-UK 1 229756160 229756160 single base substitution C G intron_variant ESAD-UK 1 229756690 229756690 single base substitution C T intron_variant ESAD-UK 1 229757573 229757573 single base substitution C T intron_variant ESAD-UK 1 229758975 229758975 single base substitution C T intron_variant ESAD-UK 1 229759201 229759201 single base substitution G A intron_variant ESAD-UK 1 229763883 229763884 deletion of <=200bp AT - upstream_gene_variant ESAD-UK 1 229764513 229764513 single base substitution C A upstream_gene_variant ESAD-UK 1 229765309 229765309 deletion of <=200bp A - upstream_gene_variant ESAD-UK 1 229765826 229765826 single base substitution A G upstream_gene_variant KIRC-US 1 229730773 229730773 single base substitution G C downstream_gene_variant KIRC-US 1 229730773 229730773 single base substitution G C missense_variant S347R 1041C>G KIRC-US 1 229738474 229738474 single base substitution T G downstream_gene_variant KIRC-US 1 229738474 229738474 single base substitution T G missense_variant Q147P 440A>C KIRC-US 1 229738593 229738593 single base substitution C A downstream_gene_variant KIRC-US 1 229738593 229738593 single base substitution C A synonymous_variant L107L 321G>T KIRP-US 1 229730727 229730727 single base substitution C T downstream_gene_variant KIRP-US 1 229730727 229730727 single base substitution C T missense_variant D363N 1087G>A LAML-KR 1 229750036 229750036 single base substitution C T intron_variant LAML-KR 1 229750036 229750036 single base substitution C T missense_variant R65H 194G>A LICA-FR 1 229726000 229726003 deletion of <=200bp AAAG - downstream_gene_variant LICA-FR 1 229726002 229726003 deletion of <=200bp AG - downstream_gene_variant LICA-FR 1 229748916 229748916 insertion of <=200bp - AA downstream_gene_variant LICA-FR 1 229748916 229748916 insertion of <=200bp - AA intron_variant LICA-FR 1 229752106 229752106 insertion of <=200bp - TATTTATTTATTTATT intron_variant LICA-FR 1 229752106 229752106 insertion of <=200bp - TATTTATTTATTTATT upstream_gene_variant LINC-JP 1 229730521 229730521 single base substitution A G downstream_gene_variant LINC-JP 1 229730521 229730521 single base substitution A G synonymous_variant C431C 1293T>C LINC-JP 1 229739935 229739935 single base substitution C T downstream_gene_variant LINC-JP 1 229739935 229739935 single base substitution C T intron_variant LINC-JP 1 229750250 229750250 single base substitution A G intron_variant LINC-JP 1 229750250 229750250 single base substitution A G upstream_gene_variant LINC-JP 1 229760622 229760622 single base substitution T C intron_variant LINC-JP 1 229765032 229765032 single base substitution G A upstream_gene_variant LIRI-JP 1 229726833 229726833 single base substitution G T downstream_gene_variant LIRI-JP 1 229728160 229728160 single base substitution C G downstream_gene_variant LIRI-JP 1 229728999 229728999 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 229729548 229729548 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 229729694 229729694 single base substitution T A 3_prime_UTR_variant LIRI-JP 1 229730236 229730236 single base substitution G C downstream_gene_variant LIRI-JP 1 229730236 229730236 single base substitution G C synonymous_variant A526A 1578C>G LIRI-JP 1 229731828 229731828 single base substitution C A downstream_gene_variant LIRI-JP 1 229731828 229731828 single base substitution C A intron_variant LIRI-JP 1 229735161 229735161 single base substitution G A 3_prime_UTR_variant LIRI-JP 1 229735161 229735161 single base substitution G A intron_variant LIRI-JP 1 229735166 229735166 single base substitution G T 3_prime_UTR_variant LIRI-JP 1 229735166 229735166 single base substitution G T intron_variant LIRI-JP 1 229739385 229739385 single base substitution A G downstream_gene_variant LIRI-JP 1 229739385 229739385 single base substitution A G intron_variant LIRI-JP 1 229740790 229740790 single base substitution T C downstream_gene_variant LIRI-JP 1 229740790 229740790 single base substitution T C intron_variant LIRI-JP 1 229742693 229742693 single base substitution T C intron_variant LIRI-JP 1 229742966 229742966 single base substitution C A intron_variant LIRI-JP 1 229743754 229743754 single base substitution G T intron_variant LIRI-JP 1 229744162 229744162 single base substitution T C intron_variant LIRI-JP 1 229744789 229744789 single base substitution C T intron_variant LIRI-JP 1 229746050 229746050 single base substitution C T downstream_gene_variant LIRI-JP 1 229746050 229746050 single base substitution C T intron_variant LIRI-JP 1 229746845 229746845 single base substitution G A downstream_gene_variant LIRI-JP 1 229746845 229746845 single base substitution G A intron_variant LIRI-JP 1 229747709 229747709 single base substitution T A downstream_gene_variant LIRI-JP 1 229747709 229747709 single base substitution T A intron_variant LIRI-JP 1 229748067 229748067 single base substitution T A downstream_gene_variant LIRI-JP 1 229748067 229748067 single base substitution T A intron_variant LIRI-JP 1 229748502 229748502 single base substitution A C downstream_gene_variant LIRI-JP 1 229748502 229748502 single base substitution A C intron_variant LIRI-JP 1 229751289 229751289 single base substitution T C intron_variant LIRI-JP 1 229751289 229751289 single base substitution T C upstream_gene_variant LIRI-JP 1 229754578 229754578 single base substitution T C intron_variant LIRI-JP 1 229754578 229754578 single base substitution T C upstream_gene_variant LIRI-JP 1 229755252 229755252 single base substitution C T intron_variant LIRI-JP 1 229755635 229755635 single base substitution C T intron_variant LIRI-JP 1 229759397 229759397 single base substitution C T intron_variant LIRI-JP 1 229760215 229760215 single base substitution T A intron_variant LIRI-JP 1 229762855 229762856 deletion of <=200bp GC - upstream_gene_variant LIRI-JP 1 229764144 229764144 single base substitution T G upstream_gene_variant LIRI-JP 1 229766511 229766511 single base substitution G A upstream_gene_variant LUSC-KR 1 229730452 229730452 single base substitution G A downstream_gene_variant LUSC-KR 1 229730452 229730452 single base substitution G A synonymous_variant S454S 1362C>T LUSC-KR 1 229737107 229737107 single base substitution T C 3_prime_UTR_variant LUSC-KR 1 229737107 229737107 single base substitution T C intron_variant LUSC-KR 1 229737227 229737227 single base substitution G A 3_prime_UTR_variant LUSC-KR 1 229737227 229737227 single base substitution G A intron_variant LUSC-KR 1 229746213 229746213 single base substitution G A downstream_gene_variant LUSC-KR 1 229746213 229746213 single base substitution G A intron_variant LUSC-KR 1 229750343 229750343 single base substitution T G intron_variant LUSC-KR 1 229750343 229750343 single base substitution T G upstream_gene_variant LUSC-KR 1 229756109 229756109 single base substitution C T intron_variant LUSC-KR 1 229757530 229757530 single base substitution T C intron_variant LUSC-KR 1 229760059 229760059 single base substitution C G intron_variant LUSC-KR 1 229761989 229761989 single base substitution G C upstream_gene_variant LUSC-KR 1 229765070 229765070 single base substitution T A upstream_gene_variant LUSC-US 1 229730377 229730377 single base substitution G A downstream_gene_variant LUSC-US 1 229730377 229730377 single base substitution G A synonymous_variant N479N 1437C>T LUSC-US 1 229730434 229730434 single base substitution C T downstream_gene_variant LUSC-US 1 229730434 229730434 single base substitution C T synonymous_variant S460S 1380G>A LUSC-US 1 229730793 229730793 single base substitution G A downstream_gene_variant LUSC-US 1 229730793 229730793 single base substitution G A missense_variant H341Y 1021C>T LUSC-US 1 229738436 229738436 single base substitution C A downstream_gene_variant LUSC-US 1 229738436 229738436 single base substitution C A missense_variant D160Y 478G>T MALY-DE 1 229727716 229727716 single base substitution G T downstream_gene_variant MALY-DE 1 229740939 229740939 single base substitution T G downstream_gene_variant MALY-DE 1 229740939 229740939 single base substitution T G intron_variant MALY-DE 1 229741267 229741267 single base substitution C T downstream_gene_variant MALY-DE 1 229741267 229741267 single base substitution C T intron_variant MALY-DE 1 229742731 229742731 single base substitution C G intron_variant MALY-DE 1 229748933 229748933 single base substitution A C downstream_gene_variant MALY-DE 1 229748933 229748933 single base substitution A C intron_variant MALY-DE 1 229763217 229763217 single base substitution T A upstream_gene_variant MELA-AU 1 229725227 229725227 single base substitution T C downstream_gene_variant MELA-AU 1 229725318 229725318 single base substitution G A downstream_gene_variant MELA-AU 1 229725808 229725808 single base substitution G A downstream_gene_variant MELA-AU 1 229726473 229726473 single base substitution A G downstream_gene_variant MELA-AU 1 229726741 229726741 single base substitution G A downstream_gene_variant MELA-AU 1 229727015 229727015 single base substitution C T downstream_gene_variant MELA-AU 1 229727454 229727454 single base substitution G A downstream_gene_variant MELA-AU 1 229727562 229727562 single base substitution C T downstream_gene_variant MELA-AU 1 229728521 229728521 single base substitution G A downstream_gene_variant MELA-AU 1 229728524 229728524 single base substitution G A downstream_gene_variant MELA-AU 1 229728676 229728676 single base substitution G A downstream_gene_variant MELA-AU 1 229728677 229728677 single base substitution G A downstream_gene_variant MELA-AU 1 229728835 229728835 single base substitution G T downstream_gene_variant MELA-AU 1 229729299 229729299 single base substitution G A 3_prime_UTR_variant MELA-AU 1 229729553 229729553 single base substitution G A 3_prime_UTR_variant MELA-AU 1 229729929 229729929 single base substitution G A 3_prime_UTR_variant MELA-AU 1 229730051 229730051 single base substitution T C downstream_gene_variant MELA-AU 1 229730051 229730051 single base substitution T C missense_variant E588G 1763A>G MELA-AU 1 229730227 229730227 single base substitution G A downstream_gene_variant MELA-AU 1 229730227 229730227 single base substitution G A synonymous_variant S529S 1587C>T MELA-AU 1 229730290 229730290 single base substitution G A downstream_gene_variant MELA-AU 1 229730290 229730290 single base substitution G A synonymous_variant G508G 1524C>T MELA-AU 1 229730435 229730435 single base substitution G A downstream_gene_variant MELA-AU 1 229730435 229730435 single base substitution G A missense_variant S460L 1379C>T MELA-AU 1 229730845 229730845 single base substitution G A downstream_gene_variant MELA-AU 1 229730845 229730845 single base substitution G A intron_variant MELA-AU 1 229731023 229731023 single base substitution C A downstream_gene_variant MELA-AU 1 229731023 229731023 single base substitution C A intron_variant MELA-AU 1 229731396 229731396 single base substitution G A downstream_gene_variant MELA-AU 1 229731396 229731396 single base substitution G A intron_variant MELA-AU 1 229731479 229731479 single base substitution C A downstream_gene_variant MELA-AU 1 229731479 229731479 single base substitution C A intron_variant MELA-AU 1 229731626 229731626 single base substitution G A downstream_gene_variant MELA-AU 1 229731626 229731626 single base substitution G A intron_variant MELA-AU 1 229731842 229731842 single base substitution G A downstream_gene_variant MELA-AU 1 229731842 229731842 single base substitution G A intron_variant MELA-AU 1 229731852 229731852 single base substitution T C downstream_gene_variant MELA-AU 1 229731852 229731852 single base substitution T C intron_variant MELA-AU 1 229731925 229731925 single base substitution G A downstream_gene_variant MELA-AU 1 229731925 229731925 single base substitution G A intron_variant MELA-AU 1 229732798 229732799 multiple base substitution (>=2bp and <=200bp) GT AA downstream_gene_variant MELA-AU 1 229732798 229732799 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 1 229733183 229733184 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 229733183 229733184 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 229734365 229734365 single base substitution G A downstream_gene_variant MELA-AU 1 229734365 229734365 single base substitution G A intron_variant MELA-AU 1 229734917 229734917 single base substitution G A downstream_gene_variant MELA-AU 1 229734917 229734917 single base substitution G A intron_variant MELA-AU 1 229735041 229735041 single base substitution G A 3_prime_UTR_variant MELA-AU 1 229735041 229735041 single base substitution G A intron_variant MELA-AU 1 229735444 229735444 single base substitution G A 3_prime_UTR_variant MELA-AU 1 229735444 229735444 single base substitution G A intron_variant MELA-AU 1 229735485 229735485 single base substitution A G 3_prime_UTR_variant MELA-AU 1 229735485 229735485 single base substitution A G intron_variant MELA-AU 1 229735665 229735665 single base substitution A T 3_prime_UTR_variant MELA-AU 1 229735665 229735665 single base substitution A T intron_variant MELA-AU 1 229735818 229735818 single base substitution C T 3_prime_UTR_variant MELA-AU 1 229735818 229735818 single base substitution C T intron_variant MELA-AU 1 229735859 229735859 single base substitution G A 3_prime_UTR_variant MELA-AU 1 229735859 229735859 single base substitution G A intron_variant MELA-AU 1 229736431 229736431 single base substitution G A 3_prime_UTR_variant MELA-AU 1 229736431 229736431 single base substitution G A intron_variant MELA-AU 1 229736804 229736804 single base substitution G A 3_prime_UTR_variant MELA-AU 1 229736804 229736804 single base substitution G A intron_variant MELA-AU 1 229738154 229738154 single base substitution G A downstream_gene_variant MELA-AU 1 229738154 229738154 single base substitution G A missense_variant P254S 760C>T MELA-AU 1 229738376 229738376 single base substitution G A downstream_gene_variant MELA-AU 1 229738376 229738376 single base substitution G A stop_gained Q180* 538C>T MELA-AU 1 229738377 229738377 single base substitution G A downstream_gene_variant MELA-AU 1 229738377 229738377 single base substitution G A synonymous_variant L179L 537C>T MELA-AU 1 229738579 229738580 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 229738579 229738580 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P112L 334CC>TT MELA-AU 1 229739216 229739216 single base substitution C A downstream_gene_variant MELA-AU 1 229739216 229739216 single base substitution C A intron_variant MELA-AU 1 229739708 229739708 single base substitution G A downstream_gene_variant MELA-AU 1 229739708 229739708 single base substitution G A intron_variant MELA-AU 1 229740195 229740195 single base substitution G A downstream_gene_variant MELA-AU 1 229740195 229740195 single base substitution G A intron_variant MELA-AU 1 229740729 229740729 single base substitution G A downstream_gene_variant MELA-AU 1 229740729 229740729 single base substitution G A intron_variant MELA-AU 1 229740858 229740858 single base substitution T C downstream_gene_variant MELA-AU 1 229740858 229740858 single base substitution T C intron_variant MELA-AU 1 229740944 229740944 single base substitution G A downstream_gene_variant MELA-AU 1 229740944 229740944 single base substitution G A intron_variant MELA-AU 1 229741049 229741049 single base substitution T C downstream_gene_variant MELA-AU 1 229741049 229741049 single base substitution T C intron_variant MELA-AU 1 229741082 229741082 single base substitution G A downstream_gene_variant MELA-AU 1 229741082 229741082 single base substitution G A intron_variant MELA-AU 1 229741267 229741267 single base substitution C T downstream_gene_variant MELA-AU 1 229741267 229741267 single base substitution C T intron_variant MELA-AU 1 229741304 229741304 single base substitution G A downstream_gene_variant MELA-AU 1 229741304 229741304 single base substitution G A intron_variant MELA-AU 1 229741324 229741324 single base substitution C A downstream_gene_variant MELA-AU 1 229741324 229741324 single base substitution C A intron_variant MELA-AU 1 229741623 229741623 single base substitution A G downstream_gene_variant MELA-AU 1 229741623 229741623 single base substitution A G intron_variant MELA-AU 1 229742260 229742260 single base substitution A G downstream_gene_variant MELA-AU 1 229742260 229742260 single base substitution A G intron_variant MELA-AU 1 229744101 229744101 single base substitution G A intron_variant MELA-AU 1 229744111 229744111 single base substitution G A intron_variant MELA-AU 1 229746176 229746176 single base substitution G A downstream_gene_variant MELA-AU 1 229746176 229746176 single base substitution G A intron_variant MELA-AU 1 229746788 229746788 single base substitution G A downstream_gene_variant MELA-AU 1 229746788 229746788 single base substitution G A intron_variant MELA-AU 1 229747014 229747014 single base substitution G C downstream_gene_variant MELA-AU 1 229747014 229747014 single base substitution G C intron_variant MELA-AU 1 229747086 229747086 single base substitution G A downstream_gene_variant MELA-AU 1 229747086 229747086 single base substitution G A intron_variant MELA-AU 1 229748663 229748663 single base substitution G A downstream_gene_variant MELA-AU 1 229748663 229748663 single base substitution G A intron_variant MELA-AU 1 229749376 229749376 single base substitution G A downstream_gene_variant MELA-AU 1 229749376 229749376 single base substitution G A intron_variant MELA-AU 1 229749588 229749588 single base substitution A T downstream_gene_variant MELA-AU 1 229749588 229749588 single base substitution A T intron_variant MELA-AU 1 229749743 229749743 single base substitution G A downstream_gene_variant MELA-AU 1 229749743 229749743 single base substitution G A intron_variant MELA-AU 1 229749791 229749791 single base substitution G A downstream_gene_variant MELA-AU 1 229749791 229749791 single base substitution G A intron_variant MELA-AU 1 229749924 229749924 single base substitution G A 3_prime_UTR_variant MELA-AU 1 229749924 229749924 single base substitution G A intron_variant MELA-AU 1 229750254 229750254 single base substitution G A intron_variant MELA-AU 1 229750254 229750254 single base substitution G A upstream_gene_variant MELA-AU 1 229750968 229750968 single base substitution G A intron_variant MELA-AU 1 229750968 229750968 single base substitution G A upstream_gene_variant MELA-AU 1 229751357 229751357 single base substitution G A intron_variant MELA-AU 1 229751357 229751357 single base substitution G A upstream_gene_variant MELA-AU 1 229752043 229752043 single base substitution G A intron_variant MELA-AU 1 229752043 229752043 single base substitution G A upstream_gene_variant MELA-AU 1 229752100 229752100 single base substitution G A intron_variant MELA-AU 1 229752100 229752100 single base substitution G A upstream_gene_variant MELA-AU 1 229752369 229752369 single base substitution A T intron_variant MELA-AU 1 229752369 229752369 single base substitution A T upstream_gene_variant MELA-AU 1 229752412 229752412 single base substitution A T intron_variant MELA-AU 1 229752412 229752412 single base substitution A T upstream_gene_variant MELA-AU 1 229752567 229752567 single base substitution A T intron_variant MELA-AU 1 229752567 229752567 single base substitution A T upstream_gene_variant MELA-AU 1 229753485 229753486 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 229753485 229753486 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 229754515 229754516 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 229754515 229754516 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 229754694 229754694 single base substitution G A intron_variant MELA-AU 1 229754694 229754694 single base substitution G A upstream_gene_variant MELA-AU 1 229755131 229755131 single base substitution C T intron_variant MELA-AU 1 229755131 229755131 single base substitution C T upstream_gene_variant MELA-AU 1 229755447 229755447 single base substitution G A intron_variant MELA-AU 1 229758356 229758356 single base substitution A T intron_variant MELA-AU 1 229758509 229758509 single base substitution C T intron_variant MELA-AU 1 229759074 229759074 single base substitution A G intron_variant MELA-AU 1 229761952 229761953 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 229761953 229761953 single base substitution G A upstream_gene_variant MELA-AU 1 229762017 229762017 single base substitution G A upstream_gene_variant MELA-AU 1 229762081 229762081 single base substitution C T upstream_gene_variant MELA-AU 1 229763348 229763348 single base substitution C T upstream_gene_variant MELA-AU 1 229763775 229763775 single base substitution C T upstream_gene_variant MELA-AU 1 229764288 229764288 single base substitution A G upstream_gene_variant MELA-AU 1 229764398 229764398 single base substitution G A upstream_gene_variant MELA-AU 1 229764900 229764900 single base substitution G A upstream_gene_variant MELA-AU 1 229765453 229765453 single base substitution C T upstream_gene_variant MELA-AU 1 229765535 229765535 single base substitution C T upstream_gene_variant MELA-AU 1 229765736 229765736 single base substitution C T upstream_gene_variant MELA-AU 1 229766128 229766128 single base substitution T A upstream_gene_variant ORCA-IN 1 229730601 229730601 single base substitution C T downstream_gene_variant ORCA-IN 1 229730601 229730601 single base substitution C T missense_variant D405N 1213G>A ORCA-IN 1 229736882 229736882 single base substitution C T 3_prime_UTR_variant ORCA-IN 1 229736882 229736882 single base substitution C T intron_variant ORCA-IN 1 229745874 229745874 single base substitution G A downstream_gene_variant ORCA-IN 1 229745874 229745874 single base substitution G A exon_variant ORCA-IN 1 229745874 229745874 single base substitution G A stop_gained R76* 226C>T OV-AU 1 229739811 229739811 single base substitution C T downstream_gene_variant OV-AU 1 229739811 229739811 single base substitution C T intron_variant OV-AU 1 229740414 229740414 single base substitution C G downstream_gene_variant OV-AU 1 229740414 229740414 single base substitution C G intron_variant OV-AU 1 229741014 229741014 single base substitution G T downstream_gene_variant OV-AU 1 229741014 229741014 single base substitution G T intron_variant OV-AU 1 229742874 229742874 single base substitution T C intron_variant OV-AU 1 229747497 229747497 single base substitution C G downstream_gene_variant OV-AU 1 229747497 229747497 single base substitution C G intron_variant OV-AU 1 229751743 229751743 single base substitution G C intron_variant OV-AU 1 229751743 229751743 single base substitution G C upstream_gene_variant OV-AU 1 229757298 229757298 single base substitution G C intron_variant OV-AU 1 229765324 229765324 single base substitution C A upstream_gene_variant OV-AU 1 229766628 229766628 single base substitution C G upstream_gene_variant PACA-AU 1 229726862 229726862 single base substitution C T downstream_gene_variant PACA-AU 1 229732599 229732599 single base substitution C G downstream_gene_variant PACA-AU 1 229732599 229732599 single base substitution C G intron_variant PACA-AU 1 229734395 229734395 single base substitution A G downstream_gene_variant PACA-AU 1 229734395 229734395 single base substitution A G intron_variant PACA-AU 1 229735019 229735019 single base substitution C G 3_prime_UTR_variant PACA-AU 1 229735019 229735019 single base substitution C G intron_variant PACA-AU 1 229736853 229736853 deletion of <=200bp G - 3_prime_UTR_variant PACA-AU 1 229736853 229736853 deletion of <=200bp G - intron_variant PACA-AU 1 229739184 229739184 single base substitution T A downstream_gene_variant PACA-AU 1 229739184 229739184 single base substitution T A intron_variant PACA-AU 1 229740709 229740709 single base substitution G A downstream_gene_variant PACA-AU 1 229740709 229740709 single base substitution G A intron_variant PACA-AU 1 229747907 229747907 single base substitution C T downstream_gene_variant PACA-AU 1 229747907 229747907 single base substitution C T intron_variant PACA-AU 1 229754346 229754346 single base substitution G A intron_variant PACA-AU 1 229754346 229754346 single base substitution G A upstream_gene_variant PACA-AU 1 229760157 229760157 single base substitution G A intron_variant PACA-AU 1 229762995 229762995 single base substitution C G upstream_gene_variant PACA-AU 1 229763934 229763934 single base substitution T C upstream_gene_variant PACA-AU 1 229765877 229765877 single base substitution G T upstream_gene_variant PACA-CA 1 229731104 229731104 single base substitution C T downstream_gene_variant PACA-CA 1 229731104 229731104 single base substitution C T intron_variant PACA-CA 1 229733047 229733047 single base substitution G A downstream_gene_variant PACA-CA 1 229733047 229733047 single base substitution G A intron_variant PACA-CA 1 229736621 229736621 single base substitution C A 3_prime_UTR_variant PACA-CA 1 229736621 229736621 single base substitution C A intron_variant PACA-CA 1 229737945 229737945 single base substitution C A downstream_gene_variant PACA-CA 1 229737945 229737945 single base substitution C A missense_variant E323D 969G>T PACA-CA 1 229738764 229738764 single base substitution C T downstream_gene_variant PACA-CA 1 229738764 229738764 single base substitution C T intron_variant PACA-CA 1 229740554 229740554 insertion of <=200bp - GAG downstream_gene_variant PACA-CA 1 229740554 229740554 insertion of <=200bp - GAG intron_variant PACA-CA 1 229745715 229745715 single base substitution A G downstream_gene_variant PACA-CA 1 229745715 229745715 single base substitution A G intron_variant PACA-CA 1 229751001 229751001 insertion of <=200bp - T intron_variant PACA-CA 1 229751001 229751001 insertion of <=200bp - T upstream_gene_variant PACA-CA 1 229752834 229752834 insertion of <=200bp - T intron_variant PACA-CA 1 229752834 229752834 insertion of <=200bp - T upstream_gene_variant PACA-CA 1 229757687 229757687 single base substitution C G intron_variant PACA-CA 1 229763161 229763161 single base substitution C G upstream_gene_variant PACA-CA 1 229765320 229765320 single base substitution A G upstream_gene_variant PAEN-AU 1 229732923 229732923 single base substitution C A downstream_gene_variant PAEN-AU 1 229732923 229732923 single base substitution C A intron_variant PAEN-AU 1 229737723 229737723 single base substitution A G 3_prime_UTR_variant PAEN-AU 1 229737723 229737723 single base substitution A G downstream_gene_variant PAEN-AU 1 229737723 229737723 single base substitution A G intron_variant PAEN-AU 1 229763884 229763884 single base substitution T C upstream_gene_variant PAEN-IT 1 229729892 229729892 single base substitution C A 3_prime_UTR_variant PAEN-IT 1 229740961 229740961 single base substitution C T downstream_gene_variant PAEN-IT 1 229740961 229740961 single base substitution C T intron_variant PBCA-DE 1 229732620 229732620 insertion of <=200bp - T downstream_gene_variant PBCA-DE 1 229732620 229732620 insertion of <=200bp - T intron_variant PBCA-DE 1 229748563 229748563 single base substitution G A downstream_gene_variant PBCA-DE 1 229748563 229748563 single base substitution G A intron_variant PRAD-CA 1 229726003 229726003 single base substitution G A downstream_gene_variant PRAD-CA 1 229726841 229726841 single base substitution C G downstream_gene_variant PRAD-CA 1 229734454 229734454 single base substitution C T downstream_gene_variant PRAD-CA 1 229734454 229734454 single base substitution C T intron_variant PRAD-CA 1 229765606 229765606 single base substitution C G upstream_gene_variant PRAD-UK 1 229731277 229731277 single base substitution G A downstream_gene_variant PRAD-UK 1 229731277 229731277 single base substitution G A intron_variant PRAD-UK 1 229732801 229732801 single base substitution C T downstream_gene_variant PRAD-UK 1 229732801 229732801 single base substitution C T intron_variant PRAD-UK 1 229741333 229741333 deletion of <=200bp A - downstream_gene_variant PRAD-UK 1 229741333 229741333 deletion of <=200bp A - intron_variant PRAD-UK 1 229747126 229747126 single base substitution C T downstream_gene_variant PRAD-UK 1 229747126 229747126 single base substitution C T intron_variant PRAD-US 1 229738251 229738251 single base substitution G A downstream_gene_variant PRAD-US 1 229738251 229738251 single base substitution G A synonymous_variant N221N 663C>T RECA-EU 1 229733181 229733181 single base substitution A C downstream_gene_variant RECA-EU 1 229733181 229733181 single base substitution A C intron_variant RECA-EU 1 229739475 229739475 single base substitution T A downstream_gene_variant RECA-EU 1 229739475 229739475 single base substitution T A intron_variant RECA-EU 1 229757012 229757012 single base substitution T A intron_variant RECA-EU 1 229759415 229759415 single base substitution C A intron_variant RECA-EU 1 229760329 229760329 single base substitution T G intron_variant RECA-EU 1 229760989 229760989 single base substitution C A intron_variant SKCA-BR 1 229726003 229726003 single base substitution G A downstream_gene_variant SKCA-BR 1 229728820 229728820 single base substitution A C downstream_gene_variant SKCA-BR 1 229729334 229729334 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 229732205 229732205 single base substitution A T downstream_gene_variant SKCA-BR 1 229732205 229732205 single base substitution A T intron_variant SKCA-BR 1 229733254 229733254 single base substitution A C downstream_gene_variant SKCA-BR 1 229733254 229733254 single base substitution A C intron_variant SKCA-BR 1 229734987 229734987 single base substitution A C 3_prime_UTR_variant SKCA-BR 1 229734987 229734987 single base substitution A C intron_variant SKCA-BR 1 229736741 229736741 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 229736741 229736741 single base substitution G A intron_variant SKCA-BR 1 229739061 229739061 single base substitution G A downstream_gene_variant SKCA-BR 1 229739061 229739061 single base substitution G A intron_variant SKCA-BR 1 229739920 229739920 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 1 229739920 229739920 insertion of <=200bp - AT intron_variant SKCA-BR 1 229741359 229741359 insertion of <=200bp - ATT downstream_gene_variant SKCA-BR 1 229741359 229741359 insertion of <=200bp - ATT intron_variant SKCA-BR 1 229752121 229752121 single base substitution A T intron_variant SKCA-BR 1 229752121 229752121 single base substitution A T upstream_gene_variant SKCA-BR 1 229756703 229756703 insertion of <=200bp - ATGTG intron_variant SKCA-BR 1 229757213 229757213 single base substitution G A intron_variant SKCA-BR 1 229757214 229757214 single base substitution G A intron_variant SKCA-BR 1 229757765 229757769 deletion of <=200bp CATCT - intron_variant SKCA-BR 1 229758017 229758017 single base substitution T G intron_variant SKCA-BR 1 229758523 229758523 insertion of <=200bp - TA intron_variant SKCA-BR 1 229760060 229760060 single base substitution A C intron_variant SKCA-BR 1 229766010 229766010 single base substitution A C upstream_gene_variant SKCM-US 1 229730347 229730347 single base substitution G A downstream_gene_variant SKCM-US 1 229730347 229730347 single base substitution G A synonymous_variant D489D 1467C>T SKCM-US 1 229730512 229730512 single base substitution G A downstream_gene_variant SKCM-US 1 229730512 229730512 single base substitution G A synonymous_variant F434F 1302C>T SKCM-US 1 229730571 229730571 single base substitution G A downstream_gene_variant SKCM-US 1 229730571 229730571 single base substitution G A missense_variant R415W 1243C>T SKCM-US 1 229738200 229738200 single base substitution G A downstream_gene_variant SKCM-US 1 229738200 229738200 single base substitution G A synonymous_variant A238A 714C>T SKCM-US 1 229738377 229738377 single base substitution G A downstream_gene_variant SKCM-US 1 229738377 229738377 single base substitution G A synonymous_variant L179L 537C>T SKCM-US 1 229738452 229738452 single base substitution C G downstream_gene_variant SKCM-US 1 229738452 229738452 single base substitution C G missense_variant K154N 462G>C SKCM-US 1 229738560 229738560 single base substitution A C downstream_gene_variant SKCM-US 1 229738560 229738560 single base substitution A C missense_variant S118R 354T>G SKCM-US 1 229738629 229738629 single base substitution G A downstream_gene_variant SKCM-US 1 229738629 229738629 single base substitution G A synonymous_variant L95L 285C>T SKCM-US 1 229750146 229750146 single base substitution G A exon_variant SKCM-US 1 229750146 229750146 single base substitution G A synonymous_variant P28P 84C>T STAD-US 1 229730363 229730363 single base substitution G A downstream_gene_variant STAD-US 1 229730363 229730363 single base substitution G A missense_variant A484V 1451C>T STAD-US 1 229730496 229730521 deletion of <=200bp AGTTTGAATTAGGGTGGAATTTGACA - downstream_gene_variant STAD-US 1 229730496 229730521 deletion of <=200bp AGTTTGAATTAGGGTGGAATTTGACA - frameshift_variant CVKFHPNSNY431 STAD-US 1 229730519 229730520 deletion of <=200bp AC - downstream_gene_variant STAD-US 1 229730519 229730520 deletion of <=200bp AC - frameshift_variant V432 STAD-US 1 229730525 229730525 single base substitution T C downstream_gene_variant STAD-US 1 229730525 229730525 single base substitution T C missense_variant D430G 1289A>G STAD-US 1 229730770 229730770 single base substitution C G downstream_gene_variant STAD-US 1 229730770 229730770 single base substitution C G synonymous_variant T348T 1044G>C STAD-US 1 229737984 229737984 single base substitution G A downstream_gene_variant STAD-US 1 229737984 229737984 single base substitution G A synonymous_variant D310D 930C>T STAD-US 1 229738209 229738209 single base substitution G A downstream_gene_variant STAD-US 1 229738209 229738209 single base substitution G A synonymous_variant N235N 705C>T STAD-US 1 229738579 229738579 single base substitution G A downstream_gene_variant STAD-US 1 229738579 229738579 single base substitution G A missense_variant P112L 335C>T STAD-US 1 229750217 229750217 single base substitution G A exon_variant STAD-US 1 229750217 229750217 single base substitution G A missense_variant R5C 13C>T THCA-SA 1 229730234 229730234 single base substitution G C downstream_gene_variant THCA-SA 1 229730234 229730234 single base substitution G C missense_variant S527C 1580C>G UCEC-US 1 229730315 229730315 single base substitution C A downstream_gene_variant UCEC-US 1 229730315 229730315 single base substitution C A missense_variant G500V 1499G>T UCEC-US 1 229730560 229730560 single base substitution C T downstream_gene_variant UCEC-US 1 229730560 229730560 single base substitution C T synonymous_variant P418P 1254G>A UCEC-US 1 229730571 229730571 single base substitution G A downstream_gene_variant UCEC-US 1 229730571 229730571 single base substitution G A missense_variant R415W 1243C>T UCEC-US 1 229738141 229738141 single base substitution G T downstream_gene_variant UCEC-US 1 229738141 229738141 single base substitution G T missense_variant T258N 773C>A UCEC-US 1 229738365 229738365 single base substitution G A downstream_gene_variant UCEC-US 1 229738365 229738365 single base substitution G A synonymous_variant N183N 549C>T UCEC-US 1 229738425 229738425 single base substitution G A downstream_gene_variant UCEC-US 1 229738425 229738425 single base substitution G A synonymous_variant Y163Y 489C>T UCEC-US 1 229745902 229745902 single base substitution T C downstream_gene_variant UCEC-US 1 229745902 229745902 single base substitution T C exon_variant UCEC-US 1 229745902 229745902 single base substitution T C synonymous_variant E66E 198A>G UCEC-US 1 229750202 229750202 single base substitution G C exon_variant UCEC-US 1 229750202 229750202 single base substitution G C missense_variant Q10E 28C>G UCEC-US 1 229750222 229750222 single base substitution C T exon_variant UCEC-US 1 229750222 229750222 single base substitution C T missense_variant R3Q 8G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand BD184T COSM5517587 c.209A>G p.Y70C Substitution - Missense 1:229610144-229610144 - SNU-C2B COSM1997673 c.19G>A p.E7K Substitution - Missense 1:229614464-229614464 - NPC10F COSM4995391 c.128C>T p.A43V Substitution - Missense 1:229614355-229614355 - MD-023 COSM303340 c.447C>T p.I149I Substitution - coding silent 1:229602720-229602720 - TCGA-22-5485-01 COSM679154 c.478G>T p.D160Y Substitution - Missense 1:229602689-229602689 - TCGA-BR-8487-01 COSM4029347 c.335C>T p.P112L Substitution - Missense 1:229602832-229602832 - H23 COSM1196279 c.101G>T p.R34L Substitution - Missense 1:229614382-229614382 - Pat_59_A COSM5845797 c.459C>A p.F153L Substitution - Missense 1:229602708-229602708 - TCGA-D1-A103-01 COSM905284 c.773C>A p.T258N Substitution - Missense 1:229602394-229602394 - TCGA-AP-A051-01 COSM905287 c.549C>T p.N183N Substitution - coding silent 1:229602618-229602618 - TCGA-D1-A103-01 COSM905299 c.8G>A p.R3Q Substitution - Missense 1:229614475-229614475 - TCGA-D8-A1JN-01 COSM1473582 c.303C>T p.V101V Substitution - coding silent 1:229602864-229602864 - SC_9081 COSM5569889 c.113C>T p.T38I Substitution - Missense 1:229614370-229614370 - TCGA-AC-A5XS-01 COSM4391121 c.679G>C p.D227H Substitution - Missense 1:229602488-229602488 - PT33 COSM5605076 c.538C>T p.Q180* Substitution - Nonsense 1:229602629-229602629 - TCGA-BR-4257-01 COSM1997589 c.930C>T p.D310D Substitution - coding silent 1:229602237-229602237 - TCGA-D7-A4YY-01 COSM1997605 c.705C>T p.N235N Substitution - coding silent 1:229602462-229602462 - 1384-01-01TD COSM5416321 c.294T>C p.P98P Substitution - coding silent 1:229602873-229602873 - PCSI_0226_Pa_P_526 COSM4809065 c.969G>T p.E323D Substitution - Missense 1:229602198-229602198 - SNU-C4 COSM4652221 c.74C>T p.S25L Substitution - Missense 1:229614409-229614409 - OSCC-GB_00200111 COSM3710636 c.226C>T p.R76* Substitution - Nonsense 1:229610127-229610127 - TCGA-BR-4370-01 COSM4029351 c.13C>T p.R5C Substitution - Missense 1:229614470-229614470 - TCGA-BH-A18G-01 COSM3804275 c.802G>T p.E268* Substitution - Nonsense 1:229602365-229602365 - 381 COSM4426402 c.915G>A p.E305E Substitution - coding silent 1:229602252-229602252 - ESCC_140 COSM5643340 c.642C>T p.S214S Substitution - coding silent 1:229602525-229602525 - T3024 COSM4732027 c.854C>T p.A285V Substitution - Missense 1:229602313-229602313 - TCGA-EE-A2MS-06 COSM3484947 c.84C>T p.P28P Substitution - coding silent 1:229614399-229614399 - NCI-H522 COSM1197109 c.559C>G p.L187V Substitution - Missense 1:229602608-229602608 - TCGA-BP-4976-01 COSM464121 c.321G>T p.L107L Substitution - coding silent 1:229602846-229602846 - TCGA-24-1604-01 COSM78607 c.761C>T p.P254L Substitution - Missense 1:229602406-229602406 - CSCC-40-T COSM4544881 c.365G>A p.R122H Substitution - Missense 1:229602802-229602802 - TCGA-DA-A1HV-06 COSM3484941 c.354T>G p.S118R Substitution - Missense 1:229602813-229602813 - 3N48-VS-3T48 COSM3671663 c.663C>T p.N221N Substitution - coding silent 1:229602504-229602504 - TCGA-A3-3362-01 COSM464119 c.440A>C p.Q147P Substitution - Missense 1:229602727-229602727 - CSCC-49-T COSM4570527 c.284T>C p.L95P Substitution - Missense 1:229602883-229602883 - PTC-7C COSM4143495 c.744A>C p.R248R Substitution - coding silent 1:229602423-229602423 - H522 COSM1197109 c.559C>G p.L187V Substitution - Missense 1:229602608-229602608 - TCGA-AX-A064-01 COSM905297 c.28C>G p.Q10E Substitution - Missense 1:229614455-229614455 - Au4 COSM5605076 c.538C>T p.Q180* Substitution - Nonsense 1:229602629-229602629 - TCGA-FW-A3R5-06 COSM3864724 c.714C>T p.A238A Substitution - coding silent 1:229602453-229602453 - B65 COSM1748205 c.544G>A p.D182N Substitution - Missense 1:229602623-229602623 - Pat_37_B COSM3710636 c.226C>T p.R76* Substitution - Nonsense 1:229610127-229610127 - TCGA-BR-4362-01 COSM1997589 c.930C>T p.D310D Substitution - coding silent 1:229602237-229602237 - STC263 COSM5053188 c.66C>T p.Y22Y Substitution - coding silent 1:229614417-229614417 - 9399_CLM COSM5754383 c.486G>T p.K162N Substitution - Missense 1:229602681-229602681 - PT31 COSM5906679 c.515A>T p.Y172F Substitution - Missense 1:229602652-229602652 - 20T COSM3710636 c.226C>T p.R76* Substitution - Nonsense 1:229610127-229610127 - TCGA-AP-A0LM-01 COSM905295 c.198A>G p.E66E Substitution - coding silent 1:229610155-229610155 - 10 COSM1715951 c.298T>G p.F100V Substitution - Missense 1:229602869-229602869 - 11-P8004 COSM4577005 c.629A>G p.Y210C Substitution - Missense 1:229602538-229602538 - PD4087a COSM164783 c.921C>G p.H307Q Substitution - Missense 1:229602246-229602246 - TCGA-AX-A0J1-01 COSM905289 c.489C>T p.Y163Y Substitution - coding silent 1:229602678-229602678 - TCGA-BH-A18G-01 COSM3804277 c.56G>A p.R19H Substitution - Missense 1:229614427-229614427 - TCGA-B6-A0IJ-01 COSM425550 c.293C>G p.P98R Substitution - Missense 1:229602874-229602874 - TCGA-EE-A2MJ-06 COSM3484939 c.462G>C p.K154N Substitution - Missense 1:229602705-229602705 - LUAD-B00915 COSM332812 c.208T>A p.Y70N Substitution - Missense 1:229610145-229610145 - B65-Tumor COSM1748205 c.544G>A p.D182N Substitution - Missense 1:229602623-229602623 - TCGA-HC-7817-01 COSM3671663 c.663C>T p.N221N Substitution - coding silent 1:229602504-229602504 - TCGA-A8-A085-01 COSM425552 c.71A>C p.D24A Substitution - Missense 1:229614412-229614412 - TCGA-EE-A29R-06 COSM3484937 c.537C>T p.L179L Substitution - coding silent 1:229602630-229602630 - TCGA-D9-A6EC-06 COSM4401677 c.285C>T p.L95L Substitution - coding silent 1:229602882-229602882 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.270532;Hs.270570;Hs.270593;Hs.270621 1q42.13

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.S118R c.354T>G 1 229738560 CM A T Synonymous p.T273T c.819T>A 1 229738095 LUAD C A Missense p.D160Y c.478G>T 1 229738436 LUSC C A Missense p.G500V c.1499G>T 1 229730315 UCEC C A Missense p.V387L c.1159G>T 1 229730655 SCLC C A Missense p.W388L c.1163G>T 1 229730651 STAD C A Synonymous p.L107L c.321G>T 1 229738593 RCCC C G Missense p.K154N c.462G>C 1 229738452 CM C G Missense p.R468P c.1403G>C 1 229730411 LUAD C T Missense p.D538N c.1612G>A 1 229730202 LUAD C T Synonymous p.P418P c.1254G>A 1 229730560 UCEC C T Synonymous p.S460S c.1380G>A 1 229730434 LUSC G A Missense p.H341Y c.1021C>T 1 229730793 LUSC G A Missense p.H589Y c.1765C>T 1 229730049 SCLC G A Missense p.P254L c.761C>T 1 229738153 OV G A Missense p.R5C c.13C>T 1 229750217 STAD G A Nonsense p.R156* c.466C>T 1 229738448 LUAD G A Synonymous p.D310D c.930C>T 1 229737984 STAD G A Synonymous p.D489D c.1467C>T 1 229730347 CM G A Synonymous p.F434F c.1302C>T 1 229730512 CM G A Synonymous p.L179L c.537C>T 1 229738377 CM G A Synonymous p.N221N c.663C>T 1 229738251 PRAD G A Synonymous p.N479N c.1437C>T 1 229730377 LUSC G A Synonymous p.P28P c.84C>T 1 229750146 CM G A Synonymous p.V101V c.303C>T 1 229738611 BRCA G C Missense p.H307Q c.921C>G 1 229737993 BRCA G C Missense p.P418R c.1253C>G 1 229730561 CM G C Missense p.P98R c.293C>G 1 229738621 BRCA G C Missense p.Q10E c.28C>G 1 229750202 UCEC G C Missense p.S347R c.1041C>G 1 229730773 RCCC G C Nonsense p.S412* c.1235C>G 1 229730579 COREAD G C Synonymous p.A526A c.1578C>G 1 229730236 HC GG AA Missense p.A548V c.1643_1644delinsTT 1 229730170 CM G T Missense p.R217S c.649C>A 1 229738265 LUAD G T Missense p.R217S c.649C>A 1 229738265 STAD T C Missense p.D430G c.1289A>G 1 229730525 STAD T G Missense p.D24A c.71A>C 1 229750159 BRCA T G Missense p.Q147P c.440A>C 1 229738474 RCCC